DPPA4
Chr 3developmental pluripotency associated 4
Also known as: 2410091M23Rik
The DPPA4 protein is a nuclear factor that maintains pluripotency in stem cells and modifies chromatin through its DNA-binding SAP domain, playing an essential role in embryogenesis. Mutations cause a severe developmental disorder with skeletal and lung abnormalities that typically results in late embryonic or early neonatal lethality. The gene shows very low constraint against loss-of-function variants, consistent with the early lethal phenotype observed in mouse models.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DPPA4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools